The hereditary stomatocytoses and allied disorders: congenital disorders of erythrocyte membrane permeability to Na and K

The hereditary stomatocytoses and allied disorders are a set of dominantly inherited haemolytic anaemias in which the plasma membrane of the red cell ‘leaks’ sodium and potassium. There are about 10 different forms of these conditions, ranging from a moderately severe haemolytic anaemia to minor conditions in which the haematology is essentially normal, but where the patients present with pseudohyperkalaemia, due to leakage of K from the red cells on cooling to room temperature. Frequently misdiagnosed as atypical hereditary spherocytosis, these conditions can show marked thrombotic complications after splenectomy, which should be avoided. Laboratory studies of these conditions have drawn attention to a 32 kDa membrane protein, stomatin, which seems to act as a regulator of Na and K transport in human and animal tissues generally, but mutations in this gene do not cause these diseases. Genetic mapping in some kindreds, but not all, points to a mutation locus on chromosome 16.